{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA0042"],"biotype":"protein_coding","hgnc_id":"HGNC:19181","gene_name":"kinesin family member 14","omim_gene":["611279"],"alias_name":null,"gene_symbol":"KIF14","hgnc_symbol":"KIF14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:200520628-200589862","ensembl_id":"ENSG00000118193"}},"GRch38":{"90":{"location":"1:200551497-200620734","ensembl_id":"ENSG00000118193"}}},"hgnc_date_symbol_changed":"2002-09-12"},"entity_type":"gene","entity_name":"KIF14","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen"],"phenotypes":["Meckel Syndrome"],"mode_of_inheritance":"","tags":[],"panel":{"id":11,"hash_id":"57e3df7e8f62034b82c0d332","name":"Familial Neural Tube Defects","disease_group":"","disease_sub_group":"","status":"public","version":"1.5","version_created":"2017-11-05T02:37:19.836037Z","relevant_disorders":[],"stats":{"number_of_genes":44,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA0042"],"biotype":"protein_coding","hgnc_id":"HGNC:19181","gene_name":"kinesin family member 14","omim_gene":["611279"],"alias_name":null,"gene_symbol":"KIF14","hgnc_symbol":"KIF14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:200520628-200589862","ensembl_id":"ENSG00000118193"}},"GRch38":{"90":{"location":"1:200551497-200620734","ensembl_id":"ENSG00000118193"}}},"hgnc_date_symbol_changed":"2002-09-12"},"entity_type":"gene","entity_name":"KIF14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen"],"phenotypes":["?Meckel syndrome 12 (616258)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":"58c8066b8f6203413360f1cf","name":"Ductal plate malformation","disease_group":"","disease_sub_group":"","status":"public","version":"1.10","version_created":"2019-06-20T15:10:58.988548Z","relevant_disorders":["Ductal plate malformation (DPM)","Polycystic liver disease"],"stats":{"number_of_genes":150,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA0042"],"biotype":"protein_coding","hgnc_id":"HGNC:19181","gene_name":"kinesin family member 14","omim_gene":["611279"],"alias_name":null,"gene_symbol":"KIF14","hgnc_symbol":"KIF14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:200520628-200589862","ensembl_id":"ENSG00000118193"}},"GRch38":{"90":{"location":"1:200551497-200620734","ensembl_id":"ENSG00000118193"}}},"hgnc_date_symbol_changed":"2002-09-12"},"entity_type":"gene","entity_name":"KIF14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","SFARI"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":657,"hash_id":null,"name":"Autism","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-06-20T15:10:14.437740Z","relevant_disorders":[],"stats":{"number_of_genes":733,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Research","slug":"research","description":"This is a gene panel used for research."}]}},{"gene_data":{"alias":["KIAA0042"],"biotype":"protein_coding","hgnc_id":"HGNC:19181","gene_name":"kinesin family member 14","omim_gene":["611279"],"alias_name":null,"gene_symbol":"KIF14","hgnc_symbol":"KIF14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:200520628-200589862","ensembl_id":"ENSG00000118193"}},"GRch38":{"90":{"location":"1:200551497-200620734","ensembl_id":"ENSG00000118193"}}},"hgnc_date_symbol_changed":"2002-09-12"},"entity_type":"gene","entity_name":"KIF14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29343805","28892560"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Literature"],"phenotypes":["Microcephaly 20, primary, autosomal recessive, 617914"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["KIAA0042"],"biotype":"protein_coding","hgnc_id":"HGNC:19181","gene_name":"kinesin family member 14","omim_gene":["611279"],"alias_name":null,"gene_symbol":"KIF14","hgnc_symbol":"KIF14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:200520628-200589862","ensembl_id":"ENSG00000118193"}},"GRch38":{"90":{"location":"1:200551497-200620734","ensembl_id":"ENSG00000118193"}}},"hgnc_date_symbol_changed":"2002-09-12"},"entity_type":"gene","entity_name":"KIF14","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24128419"],"evidence":["Expert Review Red","Other","Orphanet","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["intrauterine growth restriction (IUGR)","microcephaly","renal cystic dysplasia/agenesis","complex brain malformation","genitourinary malformation","?Meckel syndrome 12, 616258","Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome","?Meckel syndrome 12"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":150,"hash_id":"568ea01e22c1fc1c78b6715d","name":"Rare multisystem ciliopathy disorders","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"1.121","version_created":"2019-09-26T13:15:06.802957Z","relevant_disorders":["Joubert syndrome","Bardet-Biedl Syndrome"],"stats":{"number_of_genes":201,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["KIAA0042"],"biotype":"protein_coding","hgnc_id":"HGNC:19181","gene_name":"kinesin family member 14","omim_gene":["611279"],"alias_name":null,"gene_symbol":"KIF14","hgnc_symbol":"KIF14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:200520628-200589862","ensembl_id":"ENSG00000118193"}},"GRch38":{"90":{"location":"1:200551497-200620734","ensembl_id":"ENSG00000118193"}}},"hgnc_date_symbol_changed":"2002-09-12"},"entity_type":"gene","entity_name":"KIF14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24128419"],"evidence":["Expert Review Red"],"phenotypes":["?Meckel syndrome 12, 616258","complex brain malformation","?Meckel syndrome 12","intrauterine growth restriction (IUGR)","microcephaly","Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome","genitourinary malformation","renal cystic dysplasia/agenesis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":724,"hash_id":null,"name":"Neurological ciliopathies","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"0.7","version_created":"2019-10-02T08:39:13.157240Z","relevant_disorders":[],"stats":{"number_of_genes":57,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["KIAA0042"],"biotype":"protein_coding","hgnc_id":"HGNC:19181","gene_name":"kinesin family member 14","omim_gene":["611279"],"alias_name":null,"gene_symbol":"KIF14","hgnc_symbol":"KIF14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:200520628-200589862","ensembl_id":"ENSG00000118193"}},"GRch38":{"90":{"location":"1:200551497-200620734","ensembl_id":"ENSG00000118193"}}},"hgnc_date_symbol_changed":"2002-09-12"},"entity_type":"gene","entity_name":"KIF14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24128419"],"evidence":["Orphanet","Expert Review Red","Expert list","Radboud University Medical Center, Nijmegen","Other"],"phenotypes":["?Meckel syndrome 12, 616258","complex brain malformation","?Meckel syndrome 12","intrauterine growth restriction (IUGR)","microcephaly","Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome","genitourinary malformation","renal cystic dysplasia/agenesis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":725,"hash_id":null,"name":"Renal ciliopathies","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"1.0","version_created":"2019-09-03T15:05:56.297619Z","relevant_disorders":[],"stats":{"number_of_genes":91,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}}]}